Tuberous Xanthoma as a Presenting Feature of Familial Homozygous
Hypercholesterolemia with Aortic Regurgitation
Sudip Kumar Ghosh, Biswajit Majumder, Abhijit Dutta
DOI:
http://dx.doi.org/10.1016/j.jpeds.2014.09.022 Abstract
A 4-year-old boy born to consanguineous parents presented with multiple asymptomatic yellowish nodules on several areas of his body. The lesions were first noted at 2 years of age and were gradually increasing in size and numbers. His past medical history, drug history, and family history were noncontributory. Examination revealed multiple, firm, yellow, flat or dome-shaped, well-circumscribed nodules and papules (2 mm to 1 cm in diameter) on the gluteal region, elbows, and around the ankles. A linear arrangement, suggestive of the presence of Koebner phenomenon, was seenalong the gluteal folds (Figure1).
